Is Duchenne muscular dystrophy a neuromuscular disease?

Unfortunately, Duchenne muscular dystrophy (DMD) is not only one of the most severe forms of inherited muscular dystrophies but also the most common hereditary neuromuscular disease. Sadly, there is no known treatment modality that halts the progression of the disease; available treatment options are palliative.

What muscles are weak in Duchenne muscular dystrophy?

In the early stages, DMD affects the shoulder and upper arm muscles and the muscles of the hips and thighs. These weaknesses lead to difficulty in rising from the floor, climbing stairs, maintaining balance and raising the arms.

Why does Pseudohypertrophy occur in DMD?

Dating to Duchenne’s monograph, muscle hypertrophy in DMD and BMD has been attributed to deposition of fat and connective tissue, giving rise to the term pseudohypertrophic muscular paralysis. Indeed, histopathologic studies have documented fibrosis and fatty change in the calves and other hypertrophied muscles.

How are muscles affected by Duchenne muscular dystrophy?

DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve additional muscles of the body.

What is neuromuscular dystrophy?

Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.

What are the key characteristics of Duchenne muscular dystrophy?

Duchenne type muscular dystrophy

  • Frequent falls.
  • Difficulty rising from a lying or sitting position.
  • Trouble running and jumping.
  • Waddling gait.
  • Walking on the toes.
  • Large calf muscles.
  • Muscle pain and stiffness.
  • Learning disabilities.

What is the difference between muscular dystrophy and Duchenne muscular dystrophy?

Both Duchenne and Becker muscular dystrophy are caused by mutations in a protein called dystrophin. In Duchenne muscular dystrophy, functioning dystrophin is completely absent in muscle, while in Becker muscular dystrophy, there is some dystrophin present, although not enough for completely normal muscle function.

What causes Pseudohypertrophy?

— Pseudohypertrophy of the calves is most commonly related to muscular dystrophy and occasionally to endocrine disorders, chronic denervation, infection, or local tumors.

Why do calves appear enlarged in Duchenne muscular dystrophy?

It is also common for boys with DMD to have enlarged calves. This is due to scar tissue build-up in muscles, and muscle tissue being replaced by fat and connective tissue. Once boys with DMD do begin to walk, their movements may seem awkward. And they may walk on their toes or have a waddle-like gait.

What type of mutation causes Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD; OMIM 310200) is an X-linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene (Blake et al, 2002). The gene is the largest in the human genome, encompassing 2.6 million base pairs of DNA and containing 79 exons.

Can Duchenne muscular dystrophy be cured?

There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to improve quality of life. Steroid drugs can slow the loss of muscle strength. They may be started when the child is diagnosed or when muscle strength begins to decline.